ClinVar Miner

Submissions for variant NM_001379500.1(COL18A1):c.1254C>T (p.Asp418=)

gnomAD frequency: 0.00117  dbSNP: rs368594049
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000516835 SCV000612863 benign not specified 2017-02-03 criteria provided, single submitter clinical testing
Invitae RCV001513039 SCV001720572 benign not provided 2024-01-24 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004553120 SCV004751771 likely benign COL18A1-related disorder 2019-06-15 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.